Genomic Data
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Comprehensive genomic profiling (CGP) is ushering in an era of precision medicine by making it easier to treat tumors in a targeted manner. Check out 10 leading specialists providing these game-changing services.

As increasingly targeted cancer treatments enter the market, demand is growing for ways to quickly learn which patients might benefit the most from these therapies.

Genetic testing has made it possible to profile tumor-associated biomarkers using tissue biopsies, shedding light on how to better fight cancers. However, many genetic tests are limited to single genes or a few types of mutations.

CGP is an approach designed to screen hundreds of genetic biomarkers at once using a single next-generation sequencing (NGS) assay. It is often able to pick up broader genomic changes than standard approaches.

Many CGP tests are not limited to tissue biopsies. Some can be used to analyze the tumor’s genetic signature in the blood through sources like cell-free DNA and circulating tumor DNA (ctDNA), allowing the cancer to be characterized. This is an easier method of capturing tumor DNA and provides a more holistic picture of the tumor than taking a small biopsy from a heterogeneous tumor.

Leaps and bounds in the field of NGS, supplemented by increasing awareness of the potential of precision medicine, have fueled the adoption of CGP. The market around this space was valued at around $9.9 billion in 2022 and is expected to grow to around $26.6 billion by 2033 at an annual growth of around 9.4%, according to a report by Research and Markets.

Giant players like Thermo Fisher and Danaher are offering products to assist with CGP, whereas smaller companies are more focused on CGP tools like NGS and genetic profiling in cancer. Check out our list of the 10 largest NGS and CGP specialists, judged based on either market capitalization in the case of public companies or on the amount of funding raised for private companies.


1. Illumina
Headquarters: San Diego, California
Market cap: $20.7 billion

Illumina Genome logo

Illumina began when two of its co-founders, then at the venture capital firm CW Group, licensed a type of fluorescence-based DNA microarray technology from a researcher at Tufts University in the 1990s. The platform, which became Illumina’s BeadArray technology, was used for the rapid genotyping of single-nucleotide polymorphisms and other experiments.

Today, Illumina is known as one of the world’s leading providers of NGS for DNA and RNA. Their technology allows faster and cheaper in-depth genomic and epigenetic studies, including CGP.

One of the company’s direct contributions to CGP is the test kit TruSight Oncology Comprehensive. The kit can be used in-house by customer institutions to screen hundreds of biomarkers in a patient tumor sample. The results are designed to be available within 4–5 days of the test, whereas traditional methods can take weeks.

Illumina went public in 2000. The company spun off its subsidiary, the liquid biopsy company Grail, in 2015 and announced that it would acquire Grail again for $8 billion in 2020. However, Illumina decided to divest itself of Grail in 2023 after a two-year battle with antitrust regulators in the U.S. and E.U., who objected on the grounds that Illumina’s market dominance could hamper competition for Grail.


2. Exact Sciences Corporation
Founded: 1995
Headquarters: Madison, Wisconsin
Market cap: $13.2 billion

Exact Sciences logo

Exact Sciences kicked off by developing Cologuard®, a non-invasive test for colorectal cancer that screens DNA and blood cells in stool samples. The test was approved by the U.S. FDA in 2014 and the company went public with an IPO in 2019.

Another technology commercialized by Exact is its Oncotype DX® platform, which can provide in-depth information about colon and breast cancers by screening the genetic makeup of tumors via biopsies. Exact also teamed up with the testing lab PreventionGenetics to develop RiskGuard™, an NGS test that predicts the risk of developing inherited forms of cancer.

Exact launched a CGP-focused test called oncoExTra™ in early 2023. The test is designed to blend both genomic and transcriptomic profiling of a tumor sample to predict which therapies may work for a patient. The test may be best suited to patients with advanced, aggressive, rare, and recurrent cancers, according to the company website.


3. Qiagen
Founded: 1984
Headquarters: Venlo, the Netherlands
Market cap: $10.1 billion

Qiagen logo
Qiagen, originally named Diagen, began as a spinout from the Heinrich Heine University Düsseldorf with the aim of becoming a supplier for molecular biology research in healthcare and other sectors. The firm grew steadily, becoming one of the first European companies to list shares on the technology-focused American Nasdaq stock exchange in 1996.

The company has a wide range of kits and other equipment available to assist with genetic research, including NGS.

Qiagen also has a CGP-focused approach with its QIAseq xHYB portfolio. These kits allow researchers to focus their sequencing reads on coding regions of the genome, which contain more than 80% of disease-causing mutations. The company claims that this method can be cheaper than sequencing the whole genome.

The QIAseq xHYB kits can be used with both cell-free DNA and DNA from preserved tissue, are compatible with automation, and can be processed more quickly than other exome-focused kits.


4. Caris Life Sciences
Founded: 2008
Headquarters: Irving, Texas
Private company valuation: $7.83 billion (as of 2021)

Caris Life Sciences Logo

Caris Life Sciences was set up with the lofty goal of improving the lives of patients with the help of big data, real-world evidence, and other emerging technologies such as AI.

The company offers a range of molecular profiling services to assess the DNA, RNA, and protein signatures of a tumor, revealing a molecular blueprint to guide more precise and individualized treatment decisions. One example is FOLFIRSTai™, a test that uses AI to compare the molecular makeup of a metastatic colorectal tumor to those on Caris’ database. It can be used to predict how likely patients are to benefit from specific chemotherapies as first-line treatments.

Caris landed substantial funding worth $830 million in 2021 to fuel its growth. The company also bagged a senior secured term loan of up to $400 million in early 2023 to finance its precision medicine platform development and pay off outstanding debt.


5. Foundation Medicine
Founded: 2010
Headquarters: Cambridge, Massachusetts
Market cap: $5 billion (before it was acquired by Roche in 2018)

Foundation Medicine logo

Foundation Medicine originated from research at the Broad Institute, involving a fast method for detecting mutations that drive tumor growth. The company uses CGP to pick up these genetic mutations to suggest new, personalized treatment options.

The company’s FoundationOne®CDx test screens the DNA of cancer cells in solid tumors and its liquid biopsy equivalent screens for solid tumors using fragments in blood. Both tests have been approved by the U.S. FDA as companion diagnostics for certain cancer treatments. A recent example is Pfizer’s encorafenib and binimetinib combinations for the treatment of mutated forms of metastatic non-small cell lung cancer. Another test, the FoundationOne Heme, is designed to carry out CGP on blood cancers.

Foundation went public in 2013 and now operates as an independent subsidiary of the big pharma company Roche.


6. Guardant Health
Founded: 2012
Headquarters: Palo Alto, California
Market cap: $3.1 billion

Guardant logo

Guardant Health is a specialist in reading blood ctDNA to profile tumors and recommend treatments.

In 2020, the Guardant360® CDx assay became the first U.S. FDA-approved liquid-only CGP. It deploys NGS on ctDNA from blood samples in a less invasive process than standard tissue biopsies.

Guardant360 CDx is part of a suite of tests collectively known as Guardant Complete, which help healthcare professionals predict treatment responses to cancers at multiple stages and guide adjuvant therapy decisions. It can also carry out liquid and tissue CGP at the same time, which the company says saves vital time for the patient.

The company is also developing a blood test for cancer screening. In late 2022, Guardant Health disappointed investors when its screening test for colorectal cancer failed to match the accuracy of Exact Sciences’ Cologuard, detecting 83% of cases compared with 92% for the competing stool-based test. However, the company sees blood tests as potentially more tolerable for patients and is currently applying for FDA approval.


7. NeoGenomics
Founded: 2002
Headquarters: Fort Myers, Florida
Market cap: $2 billion

NeoGenomics Logo

NeoGenomics offers a range of genetic testing services with a focus on enabling personalized medicine.

The company boasts more than 650 diagnostic tests for hospital and pathology clients, including DNA and RNA-based NGS and fluorescence in situ hybridization.

The company also offers services for pharmaceutical and academic clients who wish to carry out biomarker discovery and oncology research. In addition, NeoGenomics deploys an informatics platform to help users run clinical trials and assess therapy outcomes.

NeoGenomics went public in 2013. In October 2023, the company added two new tests to its wide portfolio. The first was an NGS panel to profile blood cancers and the second was a panel for profiling the tumors in patients with early-stage non-small cell lung cancer.


8. Tempus
Founded: 2015
Headquarters: Chicago, Illinois
Funding raised: More than $1.3 billion

Tempus logo black

Tempus’ founder set up the company after his wife was diagnosed with breast cancer. The aim was to harness emerging data-focused technology, including AI, to improve cancer care.

Tempus offers a wide range of services centered on clinical trials, real-world evidence, and companion diagnostics. The company has also developed CGP-focused panels covering both DNA and RNA sequencing and that are suitable for solid and liquid biopsies. The company uses an AI-powered platform to speed up the genomic reporting and compare the reports with its trove of de-identified real-world data.

Although the initial focus of the company was oncology, it now uses its expertise to improve therapeutic areas such as neuropsychiatry, cardiology, and infectious disease.

Tempus raised an impressive $275 million in late 2022 to finance the development of its data-focused diagnostic platforms and scale up the company.


9. Fulgent Genetics
Founded: 2011
Headquarters: El Monte, California
Market cap: $835 million

fulgent logo

Fulgent initially emerged as a provider of genetic tests, with its first commercial tests focused on rare pediatric diseases.

The company’s claim to fame is that it opened the first clinical lab in the U.S. to detect copy number variation (CNV) using NGS. CNVs are instances where repetitive genome sequences vary across individuals, some of which have been linked to the development of cancer.

Today, Fulgent runs seven testing labs across the U.S., with a large range of single gene tests alongside NGS panels.

Fulgent Genetics was originally part of Fulgent Therapeutics. The parent firm split into Fulgent Genetics and therapeutics development company Fulgent Pharma Holdings when the genetics arm went public on the Nasdaq in 2016. In 2022, Fulgent Genetics acquired Fulgent Pharma Holdings with the aim of blending its genetic testing expertise with the latter’s drug delivery technology to boost cancer care.

Fulgent Pharma’s lead candidate treatment is a Phase I-stage nanoencapsulated formulation of the small molecule cancer drug paclitaxel that is designed to be more soluble than the conventional form of the drug .


10. Invitae Corporation
Founded: 2010
Headquarters: San Francisco, California
Market cap: $149 million

Invitae logo

Invitae was set up as a subsidiary of the precision oncology firm Genomic Health before being spun off as an independent company in 2012.

Invitae provides a catalog of genetic tests to testing providers. The tests not only cover oncology, but also therapeutic areas like rare diseases, neurology, and gynecology. In addition to the tests themselves, the company provides access to trained genetic counselors who can check the test results and discuss them directly with the provider and patient.

When Invitae merged with the genomics analysis company ArcherDX in 2020, Invitae gained access to the latter’s products FusionPlex Dx® and LiquidPlex Dx™, which are geared at providing CGP for solid tumors like non-small cell lung cancer, where it is difficult to access tissue biopsies. However, Invitae sold the assays to Integrated DNA Technologies in late 2022.

Nonetheless, Invitae is working on its own CGP capabilities, with its Personalized Cancer Monitoring™ platform designed to detect ctDNA as a biomarker for solid tumors.

DNA molecules
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Jonathan Smith is a freelance science journalist based in the U.K. and Spain. He previously worked in Berlin as reporter and news editor at Labiotech, a website covering the biotech industry. Prior to this, he completed a PhD in behavioral neurobiology at the University of Leicester and freelanced for the U.K. organizations Research Media and Society of Experimental Biology. He has also written for medwireNews, Biopharma Reporter and Outsourcing Pharma.

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